MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Disease Browser
Parent Node:
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Corneal Dystrophies, Hereditary (D003317)
..Starting node
..expand
Macular Dystrophy, Retinal, 2 (C562746)

       Child Nodes:



 Sister Nodes: 
..expandBietti Crystalline Dystrophy (C535440)
..expandBrachymesomelia renal syndrome (C537096)
..expandChorioretinal atrophy, progressive bifocal (C535356)
..expandCongenital Corneal Opacities, Cornea Guttata, and Corectopia (C563921)
..expandCorneal cerebellar syndrome (C535472)
..expandCorneal Degeneration, Ribbonlike, with Deafness (C565157)
..expandCorneal dystrophy and perceptive deafness (C535473)
..expandCorneal dystrophy Avellino type (C535474)
..expandCorneal dystrophy of Bowman layer, type 1 (C535476)
..expandCorneal Dystrophy, Band-Shaped (C562399)
..expandCorneal Dystrophy, Central Type (C563262)
..expandCorneal Dystrophy, Congenital Stromal (C566452)
..expandCorneal Dystrophy, Crystalline, of Schnyder (C535475)
..expandCorneal Dystrophy, Endothelial, X-Linked (C567587)
..expandCorneal Dystrophy, Fleck (C563256)
..expandCorneal dystrophy, gelatinous drop-like (C535480)
..expandCorneal Dystrophy, Juvenile Epithelial of Meesmann (D053559)
..expandCorneal Dystrophy, Lattice Type IIIA (C563923)
..expandCorneal Dystrophy, Lisch Epithelial (C567588)
..expandCorneal Dystrophy, Posterior Amorphous (C567546)
..expandCorneal Dystrophy, Posterior Polymorphous, 1 (C562745)
..expandCorneal Dystrophy, Posterior Polymorphous, 2 (C565176)
..expandCorneal Dystrophy, Posterior Polymorphous, 3 (C563788)
..expandCorneal Dystrophy, Subepithelial Mucinous (C567547)
..expandCorneal dystrophy, Thiel-Behnke type (C535942)
..expandCorneal Endothelial Dystrophy 1 (C565156)
..expandCorneal endothelial dystrophy type 2 (C536439)
..expandCorneodermatoosseous syndrome (C536444)
..expandDermochondrocorneal dystrophy of FrančŽ½ois (C535375)
..expandEDICT SYNDROME (OMIM:614303)
..expandEndothelial Dystrophy, Congenital Hereditary, with Nail Hypoplasia (C565591)
..expandEpithelial Recurrent Erosion Dystrophy (C565155)
..expandFuchs' Endothelial Dystrophy (D005642) Child10
..expandGroenouw type I corneal dystrophy (C537304)
..expandIchthyosiform erythroderma, corneal involvement, deafness (C537363)
..expandJudge Misch Wright syndrome (C537692)
..expandKuster Majewski Hammerstein syndrome (C538125)
..expandLattice corneal dystrophy type 1 (C537881)
..expandMacular Corneal Dystrophy, Type II (C563270)
..expandMacular dystrophy, corneal type 1 (C537834)
..expandMacular Dystrophy, Fenestrated Sheen Type (C563607)
..expandMacular dystrophy, retinal, 1, North Carolina type (C537835)
..expandMacular Dystrophy, Retinal, 2 (C562746)
..expandMeretoja syndrome (C537459)
..expandMICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS (OMIM:615458)
..expandMousa Al din Al Nassar syndrome (C536989)
..expandO'Donnell Pappas syndrome (C537858)
..expandOculodental syndrome Rutherfurd syndrome (C537732)
..expandPseudoinflammatory fundus dystrophy, Finnish type (C535828)
..expandSammartino De Crecchio Syndrome (C537229)
..expandSpondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy (C566660)
..expandSveinsson Chorioretinal Atrophy (C566236)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:7335
Name:Macular Dystrophy, Retinal, 2
Definition:
Alternative IDs:OMIM:608051
ParentIDs:MESH:D003317
TreeNumbers:C11.204.236/C562746 |C11.270.162/C562746 |C16.320.290.162/C562746
Synonyms:MCDR2
Slim Mappings:Eye disease|Genetic disease (inborn)
Reference: MedGen: C562746
MeSH: C562746
OMIM: 608051;
MSeqDR LSDB:  
Genes: PROM1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0030629Perifoveal ring of hyperautofluorescence
3 HP:0000603Central scotoma
4 HP:0007641Dyschromatopsia
5 HP:0007793Granular macular appearance
6 HP:0007754Macular dystrophy
7 HP:0007663Reduced visual acuity
8 HP:0007722Retinal pigment epithelial atrophy
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_006017.3(PROM1):c.*1143A>C8842PROM1Uncertain significance-1RCV001149731|RCV001149732|RCV001149733|RCV001149734; NMONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MON41596987315969873TG4:g.15969873T>G-
NM_006017.3(PROM1):c.*1070A>G8842PROM1Uncertain significancers886059195RCV000311499|RCV000368634|RCV000407525|RCV000407588; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|MON41596994615969946TC4:g.15969946T>CClinGen:CA10617329CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.*1052G>A8842PROM1Conflicting interpretations of pathogenicityrs577484119RCV000271338|RCV000306689|RCV000328709|RCV000363732; NMONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012141596996415969964CT4:g.15969964C>TClinGen:CA10618184CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.*963A>G8842PROM1Uncertain significancers886059196RCV000265688|RCV000323028|RCV000358063|RCV000380018; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|MON41597005315970053TC4:g.15970053T>CClinGen:CA10620363CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.*781G>A8842PROM1Uncertain significance-1RCV001145504|RCV001149842|RCV001149843|RCV001149844; NMONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012141597023515970235CT4:g.15970235C>T-
NM_006017.3(PROM1):c.*684C>T8842PROM1Conflicting interpretations of pathogenicityrs140362696RCV000278098|RCV000281713|RCV000316805|RCV000373870; NMONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012141597033215970332GA4:g.15970332G>AClinGen:CA10618194CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.*681C>G8842PROM1Uncertain significance-1RCV001145505|RCV001145506|RCV001145507|RCV001147454; NMONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012141597033515970335GC4:g.15970335G>C-
NM_006017.3(PROM1):c.*667A>C8842PROM1Benignrs2240688RCV000294834|RCV000348387|RCV000352014|RCV000386635; NMONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012141597034915970349TG4:g.15970349T>GClinGen:CA10617331CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.*640T>A8842PROM1Uncertain significance-1RCV001147455|RCV001147456|RCV001147457|RCV001148385; NMONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MOND41597037615970376AT4:g.15970376A>T-
NM_006017.3(PROM1):c.*198T>C8842PROM1Uncertain significance-1RCV001149945|RCV001149946|RCV001149947|RCV001149948; NMONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MOND41597081815970818AG4:g.15970818A>G-
NM_006017.3(PROM1):c.*189A>G8842PROM1Uncertain significance-1RCV001145609|RCV001149949|RCV001149950|RCV001149951; NMONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012141597082715970827TC4:g.15970827T>C-
NM_006017.3(PROM1):c.*107G>T8842PROM1Uncertain significance-1RCV001145610|RCV001145611|RCV001145612|RCV001145613; NMONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MOND41597090915970909CA4:g.15970909C>A-
NM_006017.3(PROM1):c.2578A>G (p.Thr860Ala)8842PROM1Conflicting interpretations of pathogenicityrs747844753RCV000261335|RCV000318837|RCV000353914|RCV000375741; NMONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012141598102215981022TC4:g.15981022T>CClinGen:CA2866319CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.2551G>A (p.Val851Ile)8842PROM1Uncertain significancers201910962RCV000274437|RCV000296764|RCV000331908|RCV000388672; NMONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MOND41598104915981049CT4:g.15981049C>TClinGen:CA2866323CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.2508G>A (p.Met836Ile)8842PROM1Uncertain significancers534529507RCV000291042|RCV000339072|RCV000344815|RCV000383008; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MON41598150915981509CT4:g.15981509C>TClinGen:CA10620364CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.2489+8T>C8842PROM1Uncertain significance-1RCV001148497|RCV001148498|RCV001148499|RCV001150065; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|MOND41598203715982037AG4:g.15982037A>G-
NM_006017.3(PROM1):c.2485G>A (p.Asp829Asn)8842PROM1Conflicting interpretations of pathogenicity-1RCV001150066|RCV001150067|RCV001150068|RCV001150069; NMONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012141598204915982049CT4:g.15982049C>T-
NM_006017.3(PROM1):c.2480T>C (p.Val827Ala)8842PROM1Uncertain significancers886059198RCV000298975|RCV000335189|RCV000392496|RCV000401717; NMONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MON41598205415982054AG4:g.15982054A>GClinGen:CA10620367CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.2373+13C>G8842PROM1Uncertain significancers886059199RCV000278589|RCV000318449|RCV000342928|RCV000373139; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|MOND41598587315985873GC4:g.15985873G>CClinGen:CA10618195CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.2364C>T (p.Ile788=)8842PROM1Conflicting interpretations of pathogenicityrs551849678RCV000283949|RCV000339031|RCV000399383|RCV000399730; NMONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MOND41598589515985895GA4:g.15985895G>AClinGen:CA2866416CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.2284A>G (p.Ser762Gly)8842PROM1Conflicting interpretations of pathogenicityrs202029748RCV000274073|RCV000319916|RCV000355970|RCV000368747|RCV000839749; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MON41598597515985975TC4:g.15985975T>CClinGen:CA2866434
NM_006017.3(PROM1):c.2281-5C>G8842PROM1Uncertain significancers777654968RCV000260970|RCV000285875|RCV000316222|RCV000380196|RCV001247620; NMONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MON41598598315985983GC4:g.15985983G>CClinGen:CA2866438
NM_006017.3(PROM1):c.2281-6C>G8842PROM1Benignrs3815344RCV000081347|RCV000291850|RCV000322412|RCV000346832|RCV000377008|RCV000826342; NMedGen:CN169374|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0041598598415985984GC4:g.15985984G>CClinGen:CA148436
NM_006017.3(PROM1):c.2211+7C>T8842PROM1Conflicting interpretations of pathogenicityrs372262346RCV000300221|RCV000312096|RCV000366791|RCV000391793; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|MOND41598757315987573GA4:g.15987573G>AClinGen:CA2866473
NM_006017.3(PROM1):c.2112C>T (p.Arg704=)8842PROM1Conflicting interpretations of pathogenicityrs375358457RCV000844932|RCV000908779|RCV001146424|RCV001146425|RCV001146426|RCV001146427; NMONDO:MONDO:0019353,MedGen:C0271093, Orphanet:827|MedGen:CN517202|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|H41598930415989304GA4:g.15989304G>A-
NM_006017.3(PROM1):c.2094C>A (p.Ser698Arg)8842PROM1Conflicting interpretations of pathogenicity-1RCV001146428|RCV001146429|RCV001146430|RCV001149203|RCV001229010; NMONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MOND41598932215989322GT4:g.15989322G>T-
NM_006017.3(PROM1):c.2050C>G (p.Arg684Gly)8842PROM1Uncertain significance-1RCV001149204|RCV001149205|RCV001149206|RCV001149207; NMONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MOND41599138115991381GC4:g.15991381G>C-
NM_006017.3(PROM1):c.1983+14G>A8842PROM1Benignrs4698436RCV000244142|RCV000260205|RCV000324663|RCV000355042|RCV000360716; NMedGen:CN169374|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0041599283115992831CT4:g.15992831C>TClinGen:CA2866564
NM_006017.3(PROM1):c.1977C>T (p.Asn659=)8842PROM1Conflicting interpretations of pathogenicityrs149028760RCV000081346|RCV000296436|RCV000326660|RCV000351307|RCV000381327|RCV000892544; NMedGen:CN169374|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0041599285115992851GA4:g.15992851G>AClinGen:CA148434CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.1946C>T (p.Ser649Leu)8842PROM1Conflicting interpretations of pathogenicityrs761911901RCV000487979|RCV000765764|RCV001199723; NMedGen:CN517202|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827; MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640; MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872; MONDO:MONDO:0012796,MedGen:C2677516,OMIM:612095,Or41599288215992882GA4:g.15992882G>AClinGen:CA2866577CN517202 not provided;
NM_006017.3(PROM1):c.1911+14G>A8842PROM1Conflicting interpretations of pathogenicityrs79077926RCV000272696|RCV000309053|RCV000357535|RCV000363702; NMONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012141599385715993857CT4:g.15993857C>TClinGen:CA2866604
NM_006017.3(PROM1):c.1871G>A (p.Cys624Tyr)8842PROM1Uncertain significancers886059200RCV000269012|RCV000274850|RCV000333496|RCV000387939; NMONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|MON41599391115993911CT4:g.15993911C>TClinGen:CA10618197
NM_006017.3(PROM1):c.1751A>G (p.His584Arg)8842PROM1Conflicting interpretations of pathogenicityrs140027620RCV000969187|RCV001150809|RCV001150810|RCV001150811|RCV001150812; NMedGen:CN517202|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786,O41599562615995626TC4:g.15995626T>C-
NM_006017.3(PROM1):c.1738A>C (p.Asn580His)8842PROM1Conflicting interpretations of pathogenicity-1RCV001144700|RCV001150813|RCV001150814|RCV001150815; NMONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012141599563915995639TG4:g.15995639T>G-
NM_006017.3(PROM1):c.1710C>T (p.Tyr570=)8842PROM1Conflicting interpretations of pathogenicity-1RCV001144701|RCV001144702|RCV001144703|RCV001146664; NMONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MOND41599566715995667GA4:g.15995667G>A-
NM_006017.3(PROM1):c.1579-6T>C8842PROM1Conflicting interpretations of pathogenicityrs181261277RCV000277946|RCV000314370|RCV000363164|RCV000369060|RCV000956181; NMONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MOND41600011716000117AG4:g.16000117A>GClinGen:CA2866715
NM_006017.3(PROM1):c.1579-12A>C8842PROM1Uncertain significance-1RCV001147571|RCV001147572|RCV001147573|RCV001147574; NMONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|MON41600012316000123TG4:g.16000123T>G-
NM_006017.3(PROM1):c.1578+9G>C8842PROM1Uncertain significancers747638667RCV000261455|RCV000262727|RCV000320164|RCV000353950; NMONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MOND41600211016002110CG4:g.16002110C>GClinGen:CA2866728
NM_006017.3(PROM1):c.1576C>T (p.Arg526Trp)8842PROM1Conflicting interpretations of pathogenicityrs201870277RCV000283728|RCV000322364|RCV000323535|RCV000380476|RCV000594499; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MOND41600212116002121GA4:g.16002121G>AClinGen:CA2866732
NM_006017.3(PROM1):c.1497C>T (p.Ile499=)8842PROM1Conflicting interpretations of pathogenicityrs113895168RCV000153771|RCV000757689|RCV001144801|RCV001150902|RCV001150903|RCV001150904; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011370,MedGen:C1863541600220016002200GA4:g.16002200G>AClinGen:CA180342CN169374 not specified;
NM_006017.3(PROM1):c.1491G>T (p.Leu497Phe)8842PROM1Conflicting interpretations of pathogenicityrs200520976RCV000291776|RCV000344405|RCV000383774|RCV000400713; NMONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012141600220616002206CA4:g.16002206C>AClinGen:CA2866747
NM_006017.3(PROM1):c.1468A>T (p.Ser490Cys)8842PROM1Conflicting interpretations of pathogenicity-1RCV001144802|RCV001144803|RCV001144804|RCV001146761; NMONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012141600222916002229TA4:g.16002229T>A-
NM_006017.3(PROM1):c.1387T>C (p.Tyr463His)8842PROM1Uncertain significance-1RCV001146766|RCV001146767|RCV001146768|RCV001147665; NMONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MON41600822816008228AG4:g.16008228A>G-
NM_006017.3(PROM1):c.1377C>T (p.Gly459=)8842PROM1Conflicting interpretations of pathogenicityrs779072238RCV000295344|RCV000312842|RCV000352517|RCV000401437; NMONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012141600823816008238GA4:g.16008238G>AClinGen:CA2866789
NM_006017.3(PROM1):c.1345G>A (p.Val449Met)8842PROM1Conflicting interpretations of pathogenicityrs200620291RCV000724359|RCV001147666|RCV001147667|RCV001147668|RCV001151003; NMedGen:CN517202|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051,Orp41600827016008270CT4:g.16008270C>TClinGen:CA239871CN169374 not specified;
NM_006017.3(PROM1):c.1301+11C>A8842PROM1Conflicting interpretations of pathogenicity-1RCV001144910|RCV001151004|RCV001151005|RCV001151006; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MOND41601056116010561GT4:g.16010561G>T-
NM_006017.3(PROM1):c.1301+10T>A8842PROM1Conflicting interpretations of pathogenicity-1RCV001144911|RCV001144912|RCV001144913|RCV001144914; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MOND41601056216010562AT4:g.16010562A>T-
NM_006017.3(PROM1):c.1279T>A (p.Leu427Met)8842PROM1Uncertain significancers200710798RCV000265119|RCV000266734|RCV000324262|RCV000358025|RCV001241226; NMONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012141601059416010594AT4:g.16010594A>TClinGen:CA10620411
NM_006017.3(PROM1):c.1279T>C (p.Leu427=)8842PROM1Conflicting interpretations of pathogenicityrs200710798RCV000935482|RCV001144915|RCV001144916|RCV001144917|RCV001146867; NMedGen:CN517202|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786,O41601059416010594AG4:g.16010594A>G-
NM_006017.3(PROM1):c.1271T>C (p.Leu424Ser)8842PROM1Uncertain significancers886059202RCV000287882|RCV000326558|RCV000327805|RCV000384644; NMONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012141601060216010602AG4:g.16010602A>GClinGen:CA10618199
NM_006017.3(PROM1):c.1218C>G (p.Leu406=)8842PROM1Uncertain significancers886059203RCV000295982|RCV000348661|RCV000388013|RCV000394593; NMONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012141601065516010655GC4:g.16010655G>CClinGen:CA10617341
NM_006017.3(PROM1):c.1199T>C (p.Leu400Pro)8842PROM1Conflicting interpretations of pathogenicityrs140682455RCV000431346|RCV001147772|RCV001147773|RCV001147774|RCV001151114; NMedGen:CN517202|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,41601067416010674AG4:g.16010674A>GClinGen:CA2866836CN169374 not specified;
NM_006017.3(PROM1):c.1152G>C (p.Arg384Ser)8842PROM1Conflicting interpretations of pathogenicity-1RCV001044541|RCV001145008|RCV001151119|RCV001151120|RCV001151121; NMedGen:CN517202|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0041601072116010721CG4:g.16010721C>G-
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys)8842PROM1Pathogenicrs137853006RCV000005960|RCV000005961|RCV000005962|RCV000479499|RCV000504765|RCV000787648|RCV000787649; NMONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MedGen:CN517202|Human Phenotype Ontology:HP:0000556,Human Phenotyp41601492216014922GA4:g.16014922G>AClinGen:CA117645,UniProtKB:O43490#VAR_057961,OMIM:604365.0003
NM_006017.3(PROM1):c.1036A>G (p.Asn346Asp)8842PROM1Uncertain significance-1RCV001071853|RCV001145009|RCV001145010|RCV001145011|RCV001145012; NMedGen:CN517202|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,41601783016017830TC4:g.16017830T>C-
NM_006017.3(PROM1):c.963G>T (p.Leu321Phe)8842PROM1Conflicting interpretations of pathogenicityrs202041422RCV000282344|RCV000304480|RCV000335053|RCV000399717; NMONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|MOND41601998516019985CA4:g.16019985C>AClinGen:CA2866910
NM_006017.3(PROM1):c.868A>C (p.Ser290Arg)8842PROM1Conflicting interpretations of pathogenicityrs182096110RCV000303463|RCV000313919|RCV000361771|RCV000365161|RCV000400435|RCV000950665; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MedGen:CN169374|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051,Orp41602008016020080TG4:g.16020080T>GClinGen:CA2866931CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.843C>T (p.His281=)8842PROM1Conflicting interpretations of pathogenicityrs374394451RCV000273099|RCV000276686|RCV000307126|RCV000364245; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|MON41602010516020105GA4:g.16020105G>AClinGen:CA2866936
NM_006017.3(PROM1):c.731G>A (p.Arg244Gln)8842PROM1Conflicting interpretations of pathogenicityrs369815021RCV000308028|RCV000347822|RCV000369682|RCV000398824; NMONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MOND41602500216025002CT4:g.16025002C>TClinGen:CA2866970
NM_006017.3(PROM1):c.718G>A (p.Gly240Arg)8842PROM1Uncertain significancers752543587RCV000262406|RCV000277700|RCV000311752|RCV000368672; NMONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MON41602501516025015CT4:g.16025015C>TClinGen:CA10620390
NM_006017.3(PROM1):c.717C>T (p.Gly239=)8842PROM1Conflicting interpretations of pathogenicityrs763697898RCV000266664|RCV000315947|RCV000324190|RCV000372846; NMONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MON41602501616025016GA4:g.16025016G>AClinGen:CA2866976
NM_006017.3(PROM1):c.631-14T>C8842PROM1Benign/Likely benignrs16892824RCV000287975|RCV000314928|RCV000345306|RCV000396849; NMONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012141602599516025995AG4:g.16025995A>GClinGen:CA2867015
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly)8842PROM1Conflicting interpretations of pathogenicityrs140872693RCV000171375|RCV000299552|RCV000348573|RCV000356757|RCV000390528|RCV000765766|RCV000987426|RCV001257791; NMedGen:CN517202|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0041602684116026841GC4:g.16026841G>CClinGen:CA236211CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.556C>T (p.Arg186Trp)8842PROM1Uncertain significancers369512467RCV000268102|RCV000298692|RCV000360430|RCV000390262; NMONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|MON41602688916026889GA4:g.16026889G>AClinGen:CA2867045
NM_006017.3(PROM1):c.380G>T (p.Gly127Val)8842PROM1Uncertain significance-1RCV001145210|RCV001145211|RCV001145212|RCV001147172; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|MON41603505616035056CA4:g.16035056C>A-
NM_006017.3(PROM1):c.376G>A (p.Val126Met)8842PROM1Conflicting interpretations of pathogenicity-1RCV001147173|RCV001147174|RCV001147175|RCV001147176|RCV001241210; NMONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|MOND41603506016035060CT4:g.16035060C>T-
NM_006017.3(PROM1):c.303+6G>A8842PROM1Benignrs2078622RCV000253413|RCV000271856|RCV000321055|RCV000329200|RCV000359497|RCV000836050; NMedGen:CN169374|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657,O41603735216037352CT4:g.16037352C>TClinGen:CA2867118
NM_006017.3(PROM1):c.277-15C>T8842PROM1Uncertain significancers372599685RCV000289511|RCV000332880|RCV000381583|RCV000389815; NMONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012141603739916037399GA4:g.16037399G>AClinGen:CA2867123
NM_006017.3(PROM1):c.276+15G>T8842PROM1Conflicting interpretations of pathogenicityrs766012920RCV000278099|RCV000295776|RCV000350668|RCV000394477; NMONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012141604055416040554CA4:g.16040554C>AClinGen:CA2867130CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.250T>A (p.Tyr84Asn)8842PROM1Uncertain significance-1RCV001149624|RCV001149625|RCV001149626|RCV001149627; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|MON41604059516040595AT4:g.16040595A>T-
NM_006017.3(PROM1):c.228G>A (p.Leu76=)8842PROM1Benignrs76963591RCV000081348|RCV000302705|RCV000337715|RCV000362013|RCV000399220; NMedGen:CN169374|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0041604061716040617CT4:g.16040617C>TClinGen:CA148437CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.181A>G (p.Ile61Val)8842PROM1Conflicting interpretations of pathogenicityrs201701647RCV000273204|RCV000308324|RCV000363045|RCV000400360; NMONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012141607734916077349TC4:g.16077349T>CClinGen:CA2867174CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.158G>A (p.Gly53Asp)8842PROM1Conflicting interpretations of pathogenicity-1RCV001145315|RCV001145316|RCV001145317|RCV001147260; NMONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|MON41607737216077372CT4:g.16077372C>T-
NM_006017.3(PROM1):c.155T>C (p.Ile52Thr)8842PROM1Uncertain significancers778896066RCV000273932|RCV000327985|RCV000333734|RCV000368597; NMONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|MON41607737516077375AG4:g.16077375A>GClinGen:CA2867181CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.129C>T (p.Thr43=)8842PROM1Benignrs10033086RCV000252686|RCV000279950|RCV000316444|RCV000375651|RCV000388410; NMedGen:CN169374|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051,Orph41607740116077401GA4:g.16077401G>AClinGen:CA2867187CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.105A>G (p.Glu35=)8842PROM1Uncertain significancers886059205RCV000280677|RCV000286424|RCV000340399|RCV000398030; NMONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012141607742516077425TC4:g.16077425T>CClinGen:CA10618201CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.15C>T (p.Leu5=)8842PROM1Benignrs10033189RCV000249658|RCV000277416|RCV000312520|RCV000367292|RCV000398887; NMedGen:CN169374|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0041607751516077515GA4:g.16077515G>AClinGen:CA2867201CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.-25T>A8842PROM1Conflicting interpretations of pathogenicityrs149845694RCV000259686|RCV000313534|RCV000319521|RCV000354399; NMONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MOND41607755416077554AT4:g.16077554A>TClinGen:CA2867210CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.-127A>G8842PROM1Uncertain significancers886059206RCV000289358|RCV000290663|RCV000344310|RCV000384989; NMONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012141607765616077656TC4:g.16077656T>CClinGen:CA10620456CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.-168G>A8842PROM1Uncertain significancers180926533RCV000261622|RCV000296943|RCV000356355|RCV000401292; NMONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C0339512,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012141607769716077697CT4:g.16077697C>TClinGen:CA10618203CN239348 Cone-Rod Dystrophy, Dominant;
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